
A case of Noonan syndrome and Whipple’s disease in the same patient
Author(s) -
Sundip S. Karsan,
Hetal A. Karsan,
Anand S Karsan,
James Ian McMillen
Publication year - 2009
Publication title -
world journal of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.427
H-Index - 155
eISSN - 2219-2840
pISSN - 1007-9327
DOI - 10.3748/wjg.15.1524
Subject(s) - medicine , noonan syndrome , anorexia , whipple disease , arthritis , gastroenterology , rash , whipple's disease , failure to thrive , dermatology , surgery , disease , coeliac disease , intestinal malabsorption
We report the first known case of both Noonan syndrome and Whipple's disease occurring in the same patient. A 36-year-old female with history of Noonan syndrome developed fatigue, anorexia, arthritis of the knees and hands with a diffuse hyperpigmented rash, night sweats, and an unintentional fifteen pound weight loss over 4 mo. Small bowel enteroscopy demonstrated mild edematous yellowish mucosa without friability. Random small bowel biopsies revealed extensive periodic acid-Schiff positive material within the foamy macrophages. She was treated with a 12 mo course of trimethoprim-sulfamethoxazole DS with clinical improvement to baseline status.